Variant report

Variant	rs56692163
Chromosome Location	chr11:46366628-46366629
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr11:46366370-46367337	HL-60	blood:	n/a	n/a
2	POLR2A	chr11:46366617-46367213	GM15510	blood:	n/a	n/a
3	ELF1	chr11:46366561-46367273	GM12878	blood:	n/a	chr11:46366933-46366944 chr11:46366932-46366945
4	TAF1	chr11:46366602-46367156	PFSK-1	brain:	n/a	n/a
5	MYC	chr11:46366451-46367149	NB4	blood:	n/a	chr11:46366897-46366907
6	POLR2A	chr11:46366594-46366664	GM12878	blood:	n/a	n/a
7	MYC	chr11:46366599-46366888	MCF10A-Er-Src	breast:	n/a	n/a
8	POLR2A	chr11:46366588-46367375	GM18951	blood:	n/a	n/a
9	CTCF	chr11:46366589-46366893	GM12878	blood:	n/a	chr11:46366822-46366835 chr11:46366829-46366842 chr11:46366829-46366842
10	TCF12	chr11:46366598-46366902	GM12878	blood:	n/a	chr11:46366816-46366823 chr11:46366815-46366825 chr11:46366779-46366789
11	CTCF	chr11:46366555-46366939	H1-hESC	embryonic stem cell:	n/a	chr11:46366822-46366835 chr11:46366829-46366842 chr11:46366829-46366842
12	CTCF	chr11:46366620-46366770	GM12867	blood:	n/a	n/a
13	POLR2A	chr11:46366625-46367282	PFSK-1	brain:	n/a	n/a
14	YY1	chr11:46366514-46367002	H1-hESC	embryonic stem cell:	n/a	chr11:46366966-46366980
15	MAX	chr11:46366451-46368261	NB4	blood:	n/a	chr11:46366897-46366907
16	SPI1	chr11:46366628-46367348	HL-60	blood:	n/a	chr11:46366936-46366943
17	POLR2A	chr11:46366603-46367196	GM12878	blood:	n/a	n/a
18	CTCF	chr11:46366612-46366922	H1-hESC	embryonic stem cell:	n/a	chr11:46366822-46366835 chr11:46366829-46366842 chr11:46366829-46366842
19	POLR2A	chr11:46366447-46367337	HUVEC	blood vessel:	n/a	n/a
20	CHD1	chr11:46366600-46366800	GM12878	blood:	n/a	n/a
21	POLR2A	chr11:46366627-46367268	HUVEC	blood vessel:	n/a	n/a
22	POLR2A	chr11:46366542-46367136	HUVEC	blood vessel:	n/a	n/a
23	POLR2A	chr11:46366516-46367325	GM12892	blood:	n/a	n/a
24	RAD21	chr11:46366526-46367037	H1-hESC	embryonic stem cell:	n/a	chr11:46366828-46366842 chr11:46366748-46366758 chr11:46366886-46366900 chr11:46366623-46366632
25	POLR2A	chr11:46366355-46367344	PFSK-1	brain:	n/a	n/a
26	YY1	chr11:46366613-46366940	HepG2	liver:	n/a	n/a
27	NRF1	chr11:46366598-46366643	H1-hESC	embryonic stem cell:	n/a	n/a
28	MAZ	chr11:46366512-46367140	GM12878	blood:	n/a	chr11:46366897-46366907
29	POLR2A	chr11:46366441-46367330	HUVEC	blood vessel:	n/a	n/a
30	CTCF	chr11:46366615-46366921	K562	blood:	n/a	chr11:46366822-46366835 chr11:46366829-46366842 chr11:46366829-46366842

No.	Distal block	Cell Line	Cell type
1	chr11:46257890..46267047-chr11:46362753..46375455,17	K562	blood:
2	chr11:46366347..46371334-chr11:46384499..46389085,13	MCF-7	breast:
3	chr11:46364302..46366934-chr11:46366940..46368898,2	K562	blood:

Variant related genes	Relation type
DGKZ	TF binding region
ENSG00000254639	Chromatin interaction
ENSG00000149091	Chromatin interaction

Extended variants
information (count: 19 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs2891617	1.00[AMR][1000 genomes]
rs55762640	1.00[AMR][1000 genomes]
rs56851661	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58031860	1.00[AMR][1000 genomes]
rs59379166	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs61183349	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7110413	1.00[AMR][1000 genomes]
rs7117944	1.00[AMR][1000 genomes]
rs736633	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7932067	1.00[AMR][1000 genomes]
rs7946071	1.00[AMR][1000 genomes]
rs7946801	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv554201	chr11:46281835-46422686	Active TSS Genic enhancers Enhancers Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
2	nsv825867	chr11:46303184-46425613	Bivalent Enhancer Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Strong transcription Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
3	esv1797501	chr11:46315437-46402521	Enhancers Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS Strong transcription Genic enhancers Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	18 gene(s)	inside rSNPs	diseases
4	esv1811345	chr11:46317062-46438072	Enhancers Bivalent Enhancer Strong transcription Weak transcription Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
5	nsv554202	chr11:46334239-46469900	Strong transcription Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Weak transcription Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
6	nsv897316	chr11:46349631-46417815	Enhancers Active TSS Weak transcription Genic enhancers Flanking Active TSS Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	20 gene(s)	inside rSNPs	diseases
7	nsv897317	chr11:46363411-46417815	Strong transcription Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Active TSS Weak transcription Genic enhancers Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	20 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:104 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:46360800-46367000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
2	chr11:46360800-46368000	Enhancers	H1 Cell Line	embryonic stem cell
3	chr11:46361400-46367000	Weak transcription	Duodenum Smooth Muscle	Duodenum
4	chr11:46361400-46367400	Enhancers	HUES48 Cell Line	embryonic stem cell
5	chr11:46361400-46367800	Enhancers	iPS-18 Cell Line	embryonic stem cell
6	chr11:46361600-46367000	Weak transcription	Colon Smooth Muscle	Colon
7	chr11:46361800-46367000	Enhancers	iPS-15b Cell Line	embryonic stem cell
8	chr11:46362000-46367200	Enhancers	iPS-20b Cell Line	embryonic stem cell
9	chr11:46362000-46368600	Weak transcription	Pancreatic Islets	Pancreatic Islet
10	chr11:46363000-46367200	Enhancers	HUES64 Cell Line	embryonic stem cell
11	chr11:46363200-46367000	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
12	chr11:46363200-46367200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr11:46363200-46368600	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
14	chr11:46363400-46367200	Weak transcription	Fetal Kidney	kidney
15	chr11:46363600-46368000	Weak transcription	Fetal Heart	heart
16	chr11:46364000-46367000	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
17	chr11:46364000-46368200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
18	chr11:46364000-46369000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
19	chr11:46364200-46366800	Enhancers	Fetal Muscle Leg	muscle
20	chr11:46364200-46367600	Weak transcription	Gastric	stomach
21	chr11:46364200-46368200	Weak transcription	Placenta Amnion	Placenta Amnion
22	chr11:46364400-46367000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
23	chr11:46364400-46367000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
24	chr11:46365000-46367000	Enhancers	Brain Angular Gyrus	brain
25	chr11:46365400-46366800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
26	chr11:46365400-46367000	Weak transcription	Brain Hippocampus Middle	brain
27	chr11:46365400-46368600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
28	chr11:46365600-46368200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
29	chr11:46365600-46368200	Weak transcription	Fetal Lung	lung
30	chr11:46365600-46368400	Weak transcription	A549	lung
31	chr11:46365600-46368600	Weak transcription	Ovary	ovary
32	chr11:46366200-46366800	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
33	chr11:46366200-46369200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
34	chr11:46366400-46366800	Flanking Active TSS	ES-I3 Cell Line	embryonic stem cell
35	chr11:46366400-46366800	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
36	chr11:46366400-46366800	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood
37	chr11:46366400-46366800	Bivalent/Poised TSS	Foreskin Fibroblast Primary Cells skin02	Skin
38	chr11:46366400-46366800	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
39	chr11:46366400-46366800	Enhancers	Esophagus	oesophagus
40	chr11:46366400-46366800	Flanking Active TSS	Left Ventricle	heart
41	chr11:46366400-46366800	Enhancers	Dnd41	blood
42	chr11:46366400-46367000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
43	chr11:46366400-46367000	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
44	chr11:46366400-46367000	Enhancers	Primary B cells from peripheral blood	blood
45	chr11:46366400-46367000	Enhancers	Brain Substantia Nigra	brain
46	chr11:46366400-46367000	Enhancers	Colonic Mucosa	Colon
47	chr11:46366400-46367000	Enhancers	Duodenum Mucosa	Duodenum
48	chr11:46366400-46367000	Enhancers	Fetal Muscle Trunk	muscle
49	chr11:46366400-46367000	Enhancers	Rectal Mucosa Donor 31	rectum
50	chr11:46366400-46367000	Enhancers	Spleen	Spleen

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links